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GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications 期刊论文

编号：

D4304209D52DA059E0E358D93B673AD1
作者：

Yang, Ying^[1];Zeng, Qi^[2];Cheng, Miaomiao^[1];Niu, Xueyang^[1];Xiangwei, Wenshu^[1];Gong, Pan^[1];Li, Wenhui(李文辉)^[3]Ma, Jiehui^[4];Zhang, Xiaoli^[5];Yang, Xiaoling^[1];Yang, Zhixian^[1];Sun, Dan^[4];Zhou, Shuizhen(周水珍)^[3]Liao, Jianxiang^[2];Jiang, Yuwu^[1];Zhang, Yuehua^[1];
语种：

英文
期刊：

JOURNAL OF NEUROLOGY ISSN：0340-5354 2022 年 269 卷 5 期 (2649 - 2665) ; MAY
收录：
关键词：

GABRB3 Epilepsy Infancy Seizure cluster Developmental delay
摘要：

Objective This study aimed to comprehensively examine the genetic and phenotypic aspects of GABRB3-related epilepsy and to explore the potential prospects of personalized medicine. Methods Genetic testing was conducted in all epilepsy patients without acquired factors for epilepsy. Through the collaboration of multicenter in China, we analyzed the genotype-phenotype correlation and antiepileptic therapy of 26 patients with GABRB3-related epilepsy. Results Thirteen GABRB3 variants were novel, and 25 were de novo. The seizure onset age ranged from 1 to 21 months (median age 3.75 months). Seizure types predominated including focal seizures (92.3%), generalized tonic-clonic seizures (23.1%), and epileptic spasms (15.4%). Clinical features included cluster seizures (80.8%), fever sensitivity (53.8%), and developmental delay (96.2%). Neuroimaging was abnormal in 10 patients, including dysplasia of the cerebral cortex, dysplasia of the frontal and temporal cortex, delayed myelination, and corpus callosum dysplasia. Eleven patients were diagnosed with developmental and epileptic encephalopathy (DEE), four with West syndrome, three with epilepsy of infancy with migrating focal seizures (EIMFS), one with epilepsy with myoclonic-atonic seizures (EMAS), one with Dravet syndrome, and one with febrile seizures plus (FS+). Seizures were controlled in 57.7% of patients by valproate, levetiracetam, or perampanel in the majority. Conclusions The clinical features of GABRB3-related epilepsy included seizure onset in early infancy, cluster seizures and fever sensitivity. Most patients manifest severe epilepsy phenotypes. Valproate, levetiracetam and perampanel seem to have positive effects on seizure control for patients with GABRB3 variants.
推荐引用方式
GB/T 7714：

Yang Ying,Zeng Qi,Cheng Miaomiao, et al. GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications [J].JOURNAL OF NEUROLOGY,2022,269(5):2649-2665.
APA：

Yang Ying,Zeng Qi,Cheng Miaomiao,Niu Xueyang,&Zhang Yuehua.(2022).GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications .JOURNAL OF NEUROLOGY,269(5):2649-2665.
MLA：

Yang Ying, et al. "GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications" .JOURNAL OF NEUROLOGY 269,5(2022):2649-2665.
入库时间：

2023/12/2 0:00:00
更新时间：

2023/12/2 0:00:00

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